388 Natural history and management of basal cell nevus syndrome: Updates from the gorlin syndrome registry

Abstract

Background: Patients with basal cell nevus syndrome (BCNS) are at increased risk of developing basal cell carcinomas (BCCs). Long-term data on tumor burden, co-morbidities, and management of BCNS is limited. Method: A prospective, cross-sectional study of self-reported questionnaire responses collected from BCNS patients from Feb 2012 to Oct 2016 through the national Gorlin Syndrome Registry. BCC burden was characterized based on frequency and anatomic distribution. Logistic regression analysis was performed to determine the association of BCC development with risk factors such as sex, family history, age of diagnosis/symptoms, and sun exposure. Treatment of BCCs and other co-morbid tumors are additionally characterized. Results: 87 BCNS participants (current age: 39.8 ± 20.0 years; age at diagnosis: 16.5 ± 12.4 years) reported a median of 172 BCCs (range 1 – 1715 BCCs) developing over their lifetime. The number of lifetime BCCs significantly associated with family history of BCNS (p = 0.02) and age (Lifetime BCCs = 5.4*Age, p < 0.0001). A median of 100 BCCs presented on the head, 56 BCCs on the trunk and extremities, and 10 BCCs on the breast and groin. Of the 27/87 (31%) participants with locally advanced or metastatic BCCs, roughly half (13/27) had tried a hedgehog inhibitor such as vismodegib, sonidegib, or itraconazole. Participants with BCNS are found to have an increased prevalence of tumors of the skin (KCOT, actinic keratosis, SCC, melanoma), brain (meningioma, medulloblastoma), and ovaries (fibroma, cyst). Conclusion: The results of this study demonstrate the high burden of BCCs among patients with BCNS. BCCs predominantly developed on sun-exposed area and strongly correlated with increased age. Additional interventions to prevent and treat BCCs are needed. This study establishes a clinical baseline for emerging therapies such as hedgehog inhibitors in the BCNS population.